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News
Missed patterns | Spectrum | Autism Research News
www.spectrumnews.org
The assumption in some published overviews of autism tends to be that all of the problems relevant to the disorder can be found at synapses, the junctions...
Gene responsible for Kleefstra syndrome mediates synaptic scaling
www.scientifica.uk.com
Researchers show how a gene called EHMT1 regulates the bandwidth at which neurons exchange information.
Network Profiles
LinkedIn: Tjitske Kleefstra - Klinisch geneticus - UMC St Radboud ...
Visualizza il profilo di Tjitske Kleefstra su LinkedIn, la più grande comunità professionale al mondo. Tjitske ha indicato 1 #esperienza lavorativa sul suo profilo. Guarda il profilo completo su LinkedIn e scopri i collegamenti di Tjitske e le offerte di lavoro presso aziende simili.
LinkedIn: Tjitske Kleefstra | LinkedIn
Bekijk het professionele profiel van Tjitske Kleefstra op LinkedIn. LinkedIn is het grootste zakelijke netwerk ter wereld en stelt professionals als Tjitske Kleefstra ...
Interests
Unexplained intellectual disability explained by state-of-the-art ...www.eurekalert.org › pub_releases › asoh-uid
www.eurekalert.org
... more than half of patients with learning and other intellectual disabilities, which affect about 2% of the population, said Tjitske Kleefstra, M.D., ...
New genetic syndrome identified; may offer some answers for puzzled...
www.sciencedaily.com
Researchers have identified a rare genetic syndrome characterized by intellectual disability, seizures, an abnormal gait and distinctive facial features. The...
Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are...
jmg.bmj.com
Tjitske Kleefstra; J Med Genet 2011; 48: Published Online First: 15 October doi: jmedgenet ; To view this item
Unexplained intellectual disability explained by state-of-the-art...
www.sciencedaily.com
A research team reported that next generation sequencing of the exome, the one to two percent of the DNA containing the genes that code for proteins, enabled...
Education
Beverly Hills girl, with rare Kleefstra Syndrome, in race against ...www.freep.com › kleefstra-syndrome-wynne-lockwood
eu.freep.com
It was discovered in by Tjitske Kleefstra, a researcher at a university in the Netherlands. In the seven months since diagnosis, the ...
Books & Literature
Tjitske Kleefstra author profile – Rxivistorigin.rxivist.org › authors
origin.rxivist.org
Research profile for Tjitske Kleefstra (Donders institute for Brain, Cognition and Behaviour, Department of Human Genetics Radboudumc), provided by Rxivist, ...
The histone methyltransferase G9a regulates PLOS Biology
journals.plos.org
Tjitske Kleefstra. Roles Resources, Writing – review & editing. Affiliation Department of Human Genetics, Donders Institute for Brain, Cognition ...
Encyclopedia of Human Genetics and Disease [2 volumes]
books.google.de
... Names 9q34.3 deletion syndrome; 9q34.3 microdeletion syndrome; 9q subtelomeric deletion syndrome; 9q syndrome Dr. Tjitske Kleefstra, a clinical geneticist ...
Samuel - Google Books Result
books.google.com.ua
Bij Tjitske Kleefstra mogen we binnenkort weer op consult in Nijmegen, om deelgenoot te zijn van haar voortschrijdende inzichten. Klinisch geneticus Yvonne ...
Related Documents
Richtlijn psychomotore retardatie - (bijna) alles wordt anders
www.slideshare.net
... M.Sc., Marjolein H. Willemsen, M.D., Bregje W.M. van Bon, M.D., Ph.D., Tjitske Kleefstra, M.D., Ph.D., Helger G. Yntema, Ph.D., Thessa Kroes, ...
Kleefstra, Tjitske [WorldCat Identities]www.worldcat.org › identities › viaf
www.worldcat.org
Most widely held works by Tjitske Kleefstra ... and phenotypes in X-linked mental retardation : from families to genes and back by Tjitske Kleefstra( Book )
EBSCOhost | | Chromosome 1p21.3 microdeletions comprising...
web.a.ebscohost.com
Tjitske Kleefstra. 1. ABSTRACT. Background MicroRNAs (miRNAs) are non- coding gene transcripts involved in post-transcriptional regulation of genes. Recent ...
Scientific Publications
European Journal of Medical Genetics | Emerging ...
www.sciencedirect.com
Edited by Conny M.A. van Ravenswaaij-Arts, Tjitske Kleefstra. Volume 52, Issues 2–3, Pages (March–June 2009). Previous vol/issue · Next vol/issue.
Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase...
www.ncbi.nlm.nih.gov
Tjitske Kleefstra, Han G. Brunner, Jeanne Amiel, Astrid R. Oudakker, Willy M. Nillesen, Alex Magee, David Geneviève, Valérie Cormier-Daire,
B3GALNT2 mutations associated with non-syndromic ...genomemedicine.biomedcentral.com › articles
genomemedicine.biomedcentral.com
... Marjolein H. Willemsen, Willemijn M. Wissink-Lindhout, Arjan P. M. de Brouwer, Tjitske Kleefstra, Rolph Pfundt & Hans van Bokhoven.
helsmoortel syndrome - PMC - NCBI
www.ncbi.nlm.nih.gov
... Marco Fichera, Paolo Bosco, Corrado Romano, Bert B.A. de Vries, Tjitske Kleefstra, R. Frank Kooy, Evan E. Eichler, Nathalie Van der Aa ...
Publications
De novo mutations in MED13, a component of the Mediator complex, are...
link.springer.com
Lot Snijders Blok and Susan M. Hiatt contributed equally as first authors, and Tjitske Kleefstra and Gregory M. Cooper contribued equally as ...
Technology Update – Lead On Network
leadonnetwork.org
... more than half of patients with learning and other intellectual disabilities, which affect about 2% of the population, said Tjitske Kleefstra, M.D., ...
Tjitske Kleefstra's Research | CureHunter
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CureHunter Inc. provides medical information and specifically does NOT provide medical advice.
Video & Audio
Professor Tjitske Kleefstra –Overview: The Journey of ...www.youtube.com › watch
www.youtube.com
Professor Tjitske Kleefstra –Overview: The Journey of Kleefstra Syndrome. No viewsNo views. • Feb 7, Like ...
Reports & Statements
Google Groups: european journal of human genetics - table of contents alert ...
: ... rolph pfundt, birgit sikkema-raddatz, stephen w scherer, christian r marshall, lorraine potocki, hans van bokhoven and tjitske kleefstra abstract: ...
Google Groups: european journal of human genetics - table of contents alert ...
: ... susanne markus, eberhard wiedersberg, gerd kistner, conny ma van ravenswaaij-arts, tjitske kleefstra, vera m kalscheuer and hans-hilger ropers abstract: ...
Wikipedia: תסמונת קליפסטרה – ויקיפדיה
מאמר ב-Gene Reviews מאת Tjitske Kleefstra, MD, PhD, Willy M Nillesen, BASc, and Helger G Yntema, ...
Wikipedia: Kleefstra-Syndrom – Wikipediade.wikipedia.org › wiki › Kleefstra-Syndrom
Das Kleefstra-Syndrom (Deletions-Syndrom 9q34.3) ist eine sehr seltene, zu den ... bezieht sich auf den Erstautoren der Erstbeschreibung aus dem Jahre durch die niederländische Humangenetikerin Tjitske Kleefstra und Mitarbeiter.
Miscellaneous
Tjitske Kleefstra | LinkedIn
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View Tjitske Kleefstra's professional profile on LinkedIn. LinkedIn is the world's largest business network, helping professionals like Tjitske Kleefstra discover ...
Klinische genetica OOR-ON Schakeljaar Geneeskunde
sites.google.com
Onderwijs coördinator: Dr. Bregje van Bon. E-mailadres: . Opleider: Dr. Tjitske Kleefstra. E-mailadres:
Disruption of an EHMT1-Associated Chromatin-Modification Module...
slideplayer.com
Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability Tjitske Kleefstra, Jamie M. Kramer, Kornelia Neveling, Marjolein.
biotek : Message: Fw: [AJHG-TOC] AJHG February (vol 78 no
groups.yahoo.com
... Martine Raynaud, Tjitske Kleefstra, Jean-Pierre Fryns, Hans-Hilger Ropers, Jamel Chelly, Claude Moraine, Jozef Gécz, Jeroen van Reeuwijk ...
European Society of Human Genetics: Young Investigator Award Winners
www.eshg.org
Tjitske Kleefstra (Nijmegen) Haploinsufficiency of the Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) gene causes the 9q subtelomeric deletion syndrome.
Tjitske Kleefstra | Publonspublons.com › researcher › tjitske-kleefstra
publons.com
View Tjitske Kleefstra's profile on Publons with 164 publications.
Tjitske Kleefstra • LITFL • Medical Eponym Librarylitfl.com › LITFL › Eponym
litfl.com
Tjitske Kleefstra is a Dutch Clinical Geneticist. Kleefstras syndrom (Kleefstra syndrome); previously known as the 9q subtelomere deletion ...
Kleefstras syndrom: intervju med Tjitske Kleefstra on Vimeo - Pinterestwww.pinterest.es › ... › Well-said Quotes
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Aug 25, This is "Kleefstras syndrom - intervju med Tjitske Kleefstra" by Frambu senter sjeldne diagnoser on Vimeo, the home for high quality videos and ...
Kleefstra, Tjitske - LIVIVO - Search results -www.livivo.de › app › search › search
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Author's details, door Tjitske Kleefstra. Language, English ; Dutch. Size, 176 S. : Ill., graph. Darst. Publishing country, Netherlands. Document type, Book ; Thesis.
搜索页_Tjitske+Kleefstra - cglhub.comwww.cglhub.com › auto › search
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在“Elsevier电子期刊”中，命中：16条，耗时： 秒. 在所有数据库中总计命中：19条. 1.Histone Methylation by the Kleefstra Syndrome Protein EHMT1 ...
Clinical neurogenetics - Radboudumc
www.radboudumc.nl
Looking for information about clinical neurogenetics? Read more about this Radboudumc research group
Psychopathology in rare genetic neurodevelopmental disorders -...
www.ru.nl
Contact : Name: Tjitske Kleefstra: Telephone: : .nl: : Visiting address: Radboud University …
About Dr. Kleefstra – Kleefstra syndrome
www.kleefstrasyndrome.org
About Dr. Kleefstra Tjitske Kleefstra, A video of Dr. Kleefstra describing Kleefstra syndrome was published by Frambu (Norway’s largest centre of excellence for rare disordered) on the video sharing site Vimeo: Page updated: HONcode.
CiteSeerX — RESEARCH Open Access
citeseerx.ist.psu.edu
RESEARCH Open Access ... May Huey Tan and Tod Fullston and Desiree Cloosterman and David Coman and George Mcgillivray and Grazia M Mancini and Tjitske Kleefstra ...
Further delineation of the KBG syndrome caused by ANKRD11 aberrations...
www.bionity.com
· ... Sascha Vermeer, Pedro Louro, Lina Ramos, Thomas JJ Maal, Celeste C van Heumen, Helger G Yntema, Carine EL Carels & Tjitske Kleefstra ...
Conference – Kleefstra syndrome
www.kleefstrasyndrome.org
Dr Tjitske Kleefstra Clinical Geneticist at the Department of Human Genetics, Radboud University, Nijmegen and was responsible for identifying the major gene (EHMT1) responsible for KS. Tjitske continues to work passionately on KS research alongside her daily work as a Clinical Geneticist.
Dr. T. [Tjitske] KLEEFSTRA Klinisch geneticus - Orphanetwww.orpha.net › consor › cgi-bin
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Pr Tjitske KLEEFSTRA. Registrierte Aktivitäten : Koordination Expertenzentrum - Klinischer Genetiker; E-mail : email; Telefonnr. : +31 (0) ; Mobile : -.
A genotype-first approach identifies an intellectual sahmri
research.sahmri.org.au
... Christian Gilissen, Lucia Grillo, Anna Hackett, Tjitske Kleefstra, David Koolen, Malin Kvarnung, Martin J. Larsen & 21 others Carlo Marcelis, ...
CiteSeerX — Case Series
citeseerx.ist.psu.edu
Case Series . Cached. Download ... {Willem Ma Verhoeven and Jos Im Egger and Marjolein H Willemsen and Gert Jm De Leijer and Tjitske Kleefstra and Donders …
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